A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161292



Internal ID8252890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:76510211..77091665hg38UCSC Ensembl
Innerchr16:76544108..77125562hg19UCSC Ensembl
Innerchr16:75101609..75683063hg18UCSC Ensembl
Innerchr16:75101609..75683063hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38581455
hg19581455
hg18581455
hg17581455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422474
Supporting Variants
SamplesND04312
Known GenesCNTNAP4, MIR4719
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161292
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer